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Canonical Allele Identifier: Get Identifier
Gene: GAMT HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252288.1:p.[Ala25_Leu37delinsArgGlyLeuArgArgSerGlyHisAlaProAlaHisPro;Lys39_Thr47delinsGlnAlaGlyAspGlyAlaLeuGlyAsp;Tyr49_His51delinsLeuTyr;Leu53Arg;Ala54_Ala55insGly]
CA2813256122
ENST00000252288.8:c.72dup